Clinical recognition

Kidney cancer. Principles and practice. Second edition. Primo N. Lara, Jr. Eric Jonasch (Editors). Springer International Publishing (2015)

Management of hereditary RCC may have substantial differences from that of its sporadic counterpart, and therefore, recognition is critical. While clinicians should avoid screening every patient with a renal mass for genetic anomalies, a certain pattern of clinical presentation and family history should trigger further workup (Table 8.1). First and foremost, a positive family history of diagnosed syndrome or bilateral/multifocal renal lesions should prompt further investigation, even if the patient in question is noted to have benign neoplasm of the kidney. Age of onset of =46 years of age is another criterion, derived from a study based on the SEER database along with the National Cancer Institute (NCI) experience. It was found that 70% of hereditary kidney cancer fell below the bottom decile in age, and referral to genetic counselors based on this threshold could maximize sensitivity and specificity for detection of a hereditary form of kidney cancer [4]. Additional features foretelling of hereditary RCC include non-clear cell with unusual histologic features [6] and associated physical manifestations (i.e., dermatologic, gastrointestinal, ophthalmologic, neurologic, endocrine, gynecologic, and pulmonary). As such, Reaume and colleagues published a clinical practice guideline aimed to guide clinicians in identifying patients with hereditary RCC [6].

Table 8.1. Features that should raise suspicion for a hereditary renal cancer syndrome

Features suggestive of hereditary RCC

  • Family history of RCC or confirmed syndrome
  • Bilaterality, multifocality, early age of onset
  • Histology: non-clear cell with unusual features, e.g., papillary type II morphology with orangophillic nucleoli, or hybrid oncocytic neoplasms

Associated tissue manifestations

  • Dermatologic: skin leiomyoma, folliculofibroma, along with multiple other skin features in TSC, BHD, and Cowden’s disease
  • Ophthalmologic: astrocytic hamartoma (phakoma), retinal angiomas
  • Neurologic: hemangioblastoma, giant cell astrocytoma, cortical tubers, and subependymal nodules
  • Endocrine: pheochromocytoma, paraganglioma, adrenal nodules, pancreatic cysts, and neuroendocrine tumors
  • Gynecologic: early onset of uterine fibroids (<30)
  • Pulmonary: lung cysts

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